Pfaundler-hurler disease E76.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Hurler M.; Hurler-Pfaundler disease; Iduronidase deficiency; M. Hurler; Mucopolysaccharidose Type I-S/H; Mucopolysaccharidosis type I-H

History
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Hurler, 1919; Pfaundler, 1920

Definition
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Hereditary mucopolysaccharidosis inherited through a defect of the enzyme α-iduronidase.

Occurrence/Epidemiology
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  • Incidence (all mucopolysaccharidoses): 3-4/100,000 inhabitants/year.
  • Incidence (Pfaundler-Hurler disease): about 1/100,000 inhabitants/year.

Etiopathogenesis
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Autosomal recessive mutations of the α-iduronidase gene (gene locus: 4p16.3). Due to the α-iduronidase defect, dermatan sulphate (= chondroitin sulphate B) and heparan sulphate are deposited lysosomally in the skin and in internal organs.

Manifestation
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First year of life.

Clinical features
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  • Integument: Hypertrichosis on the face, deep set hair on the head, bushy prominent eyebrows, occasional hirsutism and acne.
  • Extracutaneous manifestations: growth disorders, joint contractures, bone dysplasia, gargoylism, corneal opacities and hepatomegaly.

Therapy
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Symptomatic therapy of the cutaneous symptomatology. If necessary, long-term substitution with laronidase (e.g. Aldurazyme, available from international pharmacies) for the treatment of non-neurological symptoms.

Literature
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  1. Hurler G (1919) About a type of multiple varieties, mainly on the skeletal system. Z Pediatrics (Berlin) 24: 220-234
  2. Kakavanos R et al (2003) Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361: 1608-1613
  3. Kakkis ED et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344: 182-188
  4. Pfaundler M (1920) Demonstrations on a type of childhood dysostosis. Yearbook for pediatrics and physical education (Berlin) 92: 420

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020